Výsledky vyhledávání - "Sebastian, Ribi"

The early evolutionary landscape of osteosarcoma provides clues for targeted treatment strategies

Autor: Daniel Baumhoer, Sebastian Ribi, Monika Kovacova, William Cross, Baptiste Ameline, Olaf Witt, Wolfgang Hartmann, Michal Kovac, Michaela Nathrath, Andreas H. Krieg, Stefan S. Bielack, Maxim Barenboim

Publikováno v: The Journal of Pathology

Osteosarcomas are aggressive primary tumors of bone that are typically detected in locally advanced stages; however, which genetic mutations drive the cancer before its clinical detection remain unknown. To identify these events, we performed longitu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16bd37825c4ba17f51fe89970d2e1204
https://doi.org/10.1002/path.5699

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Germline RET variants underlie a subset of paediatric osteosarcoma

Autor: Marco Francesco Morini, Claudia Blattmann, Eva K. Roth, Mandy L. Ballinger, David Thomas, Karl Heinimann, Ian Tomlinson, Andreas E. Kulozik, Michaela Nathrath, Monika Kovacova, Baptiste Ameline, Sebastian Ribi, Wolfgang Hartmann, Michal Kovac, Connor Woolley, Daniel Baumhoer, Stefan S. Bielack

Publikováno v: Journal of Medical Genetics. 58:20-24

BackgroundAlthough considerable effort has been put into decoding of the osteosarcoma genome, very little is known about germline mutations that underlie this primary malignant tumour of bone.Methods and resultsWe followed here a coincidental finding

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0a43152a91ca43987143763234daf867
https://doi.org/10.1136/jmedgenet-2019-106734

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Donor-derived, metastatic urothelial cancer after kidney transplantation associated with a potentially oncogenic BK polyomavirus

Autor: Christian Wetterauer, Maarit Rämö, Klaudia Naegele, Rainer Grobholz, Lukas Bubendorf, David C Müller, Tatjana Vlajnic, Luca Quagliata, Sebastian Ribi, Valeria Perrina, Rainer Gosert, Elvis T. Ajuh, Beate Balitzki, Christian Ruiz, Cyrill A. Rentsch, Hans H. Hirsch

Publikováno v: The Journal of Pathology. 244:265-270

BK polyomavirus has been linked to urothelial carcinoma in immunosuppressed patients. Here, we performed comprehensive genomic analysis of a BK polyomavirus-associated, metachronous, multifocal and metastatic micropapillary urothelial cancer in a kid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f370444ef4db16be678431b3c250a85c
https://doi.org/10.1002/path.5012

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Genome-wide analysis of somatic copy number alterations and chromosomal breakages in osteosarcoma

Autor: Valerie B. O'Leary, Michaela Nathrath, Daniel Baumhoer, Michal Kovac, Stefan S. Bielack, Jan Smida, Sebastian Ribi, Hongen Xu, Christine Leib-Mösch, Dmitrij Frishman, Irene von Luettichau, Yanping Zhang

Publikováno v: International Journal of Cancer. 141:816-828

Osteosarcoma (OS) is the most common primary malignant bone tumor in children and adolescents. It is characterized by highly complex karyotypes with structural and numerical chromosomal alterations. The observed OS-specific characteristics in localiz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7530b36d17354d2a3a3183d9dbb859e8
https://doi.org/10.1002/ijc.30778

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Germline

Autor: Michal, Kovac, Connor, Woolley, Sebastian, Ribi, Claudia, Blattmann, Eva, Roth, Marco, Morini, Monika, Kovacova, Baptiste, Ameline, Andreas, Kulozik, Stefan, Bielack, Wolfgang, Hartmann, Mandy L, Ballinger, David M, Thomas, Ian, Tomlinson, Michaela, Nathrath, Karl, Heinimann, Daniel, Baumhoer

Publikováno v: Journal of medical genetics. 58(1)

Although considerable effort has been put into decoding of the osteosarcoma genome, very little is known about germline mutations that underlie this primary malignant tumour of bone.We followed here a coincidental finding in a multiple endocrine neop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7704f7cb01c680417a2d2c885535832b
https://pubmed.ncbi.nlm.nih.gov/32179705

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Convergent Evolution of Copy Number Alterations in Multi-Centric Hepatocellular Carcinoma

Autor: Karl Heinimann, William Cross, Daniel Baumhoer, Carolin Lackner, Michal Kovac, Cristina Quintavalle, Monika Kovacova, Salvatore Piscuoglio, Luca Quagliata, Sebastian Ribi, Luigi Terracciano, Viola Paradiso

Publikováno v: Scientific reports (Nature Publishing Group) 9 (2019). doi:10.1038/s41598-019-40843-9
info:cnr-pdr/source/autori:Lackner C.; Quagliata L.; Cross W.; Ribi S.; Heinimann K.; Paradiso V.; Quintavalle C.; Kovacova M.; Baumhoer D.; Piscuoglio S.; Terracciano L.; Kovac M./titolo:Convergent Evolution of Copy Number Alterations in Multi-Centric Hepatocellular Carcinoma/doi:10.1038%2Fs41598-019-40843-9/rivista:Scientific reports (Nature Publishing Group)/anno:2019/pagina_da:/pagina_a:/intervallo_pagine:/volume:9
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-6 (2019)

In the recent years, new molecular methods have been proposed to discriminate multicentric hepatocellular carcinomas (HCC) from intrahepatic metastases. Some of these methods utilize sequencing data to assess similarities between cancer genomes, whil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89532d553cb20ba1eb765bde8907745d
https://doi.org/10.1038/s41598-019-40843-9

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TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome

Publikováno v: Oncotarget
Europe PubMed Central
Oncotarget 6, 7727-7740 (2015)

Somatic mutations of TP53 are among the most common in cancer and germline mutations of TP53 (usually missense) can cause Li-Fraumeni syndrome (LFS). Recently, recurrent genomic rearrangements in intron 1 of TP53 have been described in osteosarcoma (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9c20d6183ff11f3fe9417a65b499bf5
http://europepmc.org/articles/PMC4480712

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Genome-wide analysis of somatic copy number alterations and chromosomal breakages in osteosarcoma

Autor: Jan, Smida, Hongen, Xu, Yanping, Zhang, Daniel, Baumhoer, Sebastian, Ribi, Michal, Kovac, Irene, von Luettichau, Stefan, Bielack, Valerie B, O'Leary, Christine, Leib-Mösch, Dmitrij, Frishman, Michaela, Nathrath

Publikováno v: International journal of cancer. 141(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2b040fbcb01977802b0ca654635a7fc1
https://pubmed.ncbi.nlm.nih.gov/28494505

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Abstract 1634: BRCA-like phenotype constitutes hallmark of osteosarcoma

Autor: Claudia Blattmann, Daniel Baumhoer, Michaela Nathrath, Sebastian Ribi, Michal Kovac

Publikováno v: Cancer Research. 78:1634-1634

Background: Osteosarcomas are aggressive bone tumours with a high degree of genetic heterogeneity, which limits treatment options in patients who do not respond to standard chemotherapy. Methods: We sequenced 104 exomes and low-coverage genomes from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::964995e18f1ce4f6e3515c90b6f0c940
https://doi.org/10.1158/1538-7445.am2018-1634

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